ProjectSummary Identifying disease causing genetic variants is a complex process that requires experts from multiple fields, includingbioinformatics,ITsystemsadministrationanddiseasepathologytoworkcloselytogether.Thesizeof sequencing data files also adds the requirement for large computational resources. As a result, performing genomicanalysesisanexpensiveandlengthyprocessandisonlyfullyadoptedinlargeresearchinstitutions. This proposal aims to simplify this process, enabling medical professionals, including genetic counselors, physicians and diagnostic clinicians to perform powerful analyses, quickly and on their own laptop. The proposedproductwillbeanintuitivewebbased?app?,builtonacloudinfrastructure,thatwilldirectananalyst throughapredefined,stateoftheartanalysispipeline.Intelligentqualitycontrolwillbeperformedonallinput data,toensurethattheconclusionsreachedarevalidandcomprehensive.Theproductwillbebuiltonthe IOBIOplatformthathasbeendevelopedbytheapplicantteam.Currentlyavailableappsbuiltonthisplatform perform analysis in realtime, using visualizations to drive the analysis, and are already popular in the community?indeedtheyhavebeenintegratedintoanumberoflargepublicprojectstosolvedatavisualization problems. These IOBIO apps will be expanded, providing new features necessary for clinical use, and consolidated into a single ?living report? from which the entire analysis will be performed, shared, and managed. Core IOBIO infrastructure will be improved for commercial deployment, including support for massivelyparallelprocessingonthecloud,maintainingrealtimeanalysisacrosslargedatasets. Theobjectiveofthisproposalistodevelopacommerciallyviableproducttosignificantlydecreasethe costandexpertizeburdenassociatedwithclinicalgenomicanalysis.Thiswillultimatelyresultinan increaseinthenumberofdiagnosedpatientsandhelpminimizethe?diagnosticodyssey?thatthey canoftenundergo.